Fig. 1: Study overview.

A genome-wide scan was performed to probe lung cancer-associated elements across the whole allele frequency spectrum. A genome-wide association study was carried out to identify trait-associated common variants. Informed by the SNP-expression regulation in lung tissues, the variant-level signal was projected to the gene level by a transcriptome-wide association study. Following the STAAR pipeline, lung cancer-associated genes were revealed by rare variant-based gene-centric and fixed/dynamic sliding window analyses. Fine-mapping and enrichment analyses were implemented to provide additional insights into the etiology and genetic architecture.